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The primary role ofradiological imagingin the diagnosis ofrare musculoskeletaldiseases. Emphasis onultrasound Federica RossiCarlo MartinoliGiovanni Murialdo2019 год

The primary role of radiological imaging in the diagnosis of rare musculoskeletal diseases. Emphasis on ultrasound
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Аннотация: Objective: In July 2017 a multidisciplinary clinical Center specialized in rare diseases was activated. A rare disease can involve the musculoskeletal system. A multimodality musculoskeletal imaging approach allows for a rapid diagnosis. The purpose of this study was to assess when musculoskeletal radiology, ultrasound in particular, plays a primary role in the diagnostic path of a rare disease. Methods and materials: The Center included a list of 621 main rare diseases. Pathologies in which radiology has a primary diagnostic role were extracted from the list. From September 2017 to January 2018 all conditions involving the musculoskeletal system, including the peripheral nervous system, were systematically evaluated by one radiologist. The second radiologist, an official consultant of the Center, verified the list for consistency. Descriptive analysis was performed. Results: A total of 101/621 (16%) rare diseases can be diagnosed for the first time in the diagnostic path of the patient with medical imaging. A total of 36/101 (36%) rare diseases involve the musculoskeletal system. A total of 14/36 (39%) are pediatric diseases, 10/36 (28%) are adult age diseases, while 12/36 (33%) diseases affect all ages. A total of 23/36 (64%) of the selected rare diseases could be diagnosed with MRI, 19/36 (53%) with CT, 23/36 (64%) with X-ray, 9/36 (25%) with an US, and 1/36 (3%) with PET. Conclusions: Musculoskeletal imaging could be important for a non-invasive diagnosis in up to 36/101 (36%) rare diseases, as well as for outcome prediction, especially in pediatrics. Musculoskeletal imaging plays a crucial role in the diagnosis of rare diseases and could strongly influence the clinical pathway. Ultrasound is crucial in up to 25% of patients with rare diseases affecting the musculoskeletal system.
Год издания: 2019
Авторы: Federica Rossi, Carlo Martinoli, Giovanni Murialdo, Angelo Schenone, Marina Grandis, Diego Ferone, Alberto Tagliafico
Издательство: Medical Communications Sp. z o.o.
Источник: Journal of Ultrasonography
Ключевые слова: Hereditary Neurological Disorders, Neurogenetic and Muscular Disorders Research, Virus-based gene therapy research
Другие ссылки: Journal of Ultrasonography (PDF)
Journal of Ultrasonography (HTML)
DOAJ (DOAJ: Directory of Open Access Journals) (HTML)
Europe PMC (PubMed Central) (PDF)
Europe PMC (PubMed Central) (HTML)
PubMed Central (HTML)
CINECA IRIS Institutial Research Information System (University of Genoa) (PDF)
CINECA IRIS Institutial Research Information System (University of Genoa) (HTML)
PubMed (HTML)